A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738295



Internal ID9972635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496574..71498139hg38UCSC Ensembl
Outerchr10:73256331..73257896hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672689, essv6769231, essv6760743, essv6765596, essv6968962, essv6862028, essv6737678, essv6734993, essv6965307, essv6976616, essv6958769, essv6856741, essv6768278, essv6935811, essv6763204
SamplesSSM008, SSM027, SSM064, SSM087, SSM050, SSM088, SSM021, SSM061, SSM029, SSM062, SSM026, SSM031, SSM004, SSM049, SSM063
Known GenesCDH23
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2738295
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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